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Protein

Tyrosine 3-monooxygenase

Gene

TH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays an important role in the physiology of adrenergic neurons.

Catalytic activityi

L-tyrosine + tetrahydrobiopterin + O2 = L-dopa + 4a-hydroxytetrahydrobiopterin.

Cofactori

Activity regulationi

Phosphorylation leads to an increase in the catalytic activity.

Pathwayi: dopamine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes dopamine from L-tyrosine.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Tyrosine 3-monooxygenase (TH)
  2. Aromatic-L-amino-acid decarboxylase (DDC)
This subpathway is part of the pathway dopamine biosynthesis, which is itself part of Catecholamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes dopamine from L-tyrosine, the pathway dopamine biosynthesis and in Catecholamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi361IronBy similarity1
Metal bindingi366IronBy similarity1
Metal bindingi406IronBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processCatecholamine biosynthesis, Neurotransmitter biosynthesis
LigandIron, Metal-binding

Enzyme and pathway databases

BRENDAi1.14.16.2 2681
ReactomeiR-HSA-209905 Catecholamine biosynthesis
SIGNORiP07101
UniPathwayi
UPA00747;UER00733

Names & Taxonomyi

Protein namesi
Recommended name:
Tyrosine 3-monooxygenase (EC:1.14.16.2)
Alternative name(s):
Tyrosine 3-hydroxylase
Short name:
TH
Gene namesi
Name:TH
Synonyms:TYH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000180176.14
HGNCiHGNC:11782 TH
MIMi191290 gene
neXtProtiNX_P07101

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Segawa syndrome autosomal recessive (ARSEGS)23 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.
See also OMIM:605407
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072863207C → Y in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072864227D → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014026233R → H in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 4 PublicationsCorresponds to variant dbSNP:rs80338892EnsemblClinVar.1
Natural variantiVAR_014027236L → P in ARSEGS; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation. 3 PublicationsCorresponds to variant dbSNP:rs121917763EnsemblClinVar.1
Natural variantiVAR_072865241A → T in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072866246H → Y in ARSEGS; loss of about 40% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072867247G → S in ARSEGS; loss of about 50% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 PublicationsCorresponds to variant dbSNP:rs762304556Ensembl.1
Natural variantiVAR_071715251P → L in ARSEGS. 1 Publication1
Natural variantiVAR_072868259E → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014028276T → P in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934581EnsemblClinVar.1
Natural variantiVAR_071716279C → F in ARSEGS. 1 Publication1
Natural variantiVAR_072869294G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs755536257EnsemblClinVar.1
Natural variantiVAR_071717296R → Q in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs199961079Ensembl.1
Natural variantiVAR_072870301P → A in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072871309F → S in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014029314T → M in ARSEGS; parkinsonian symptoms in infancy; loss of about 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917764EnsemblClinVar.1
Natural variantiVAR_071718315G → S in ARSEGS. 2 PublicationsCorresponds to variant dbSNP:rs1288483479Ensembl.1
Natural variantiVAR_072872319R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072873328R → W in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014030337R → H in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934580EnsemblClinVar.1
Natural variantiVAR_072874359C → F in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917765EnsemblClinVar.1
Natural variantiVAR_072875375F → L in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 Publications1
Natural variantiVAR_072876376A → V in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_071719382I → T in ARSEGS. 1 Publication1
Natural variantiVAR_072877385A → V in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs763039181Ensembl.1
Natural variantiVAR_072878387L → M in ARSEGS; no effect on tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072879394I → T in ARSEGS; complete loss of tyrosine hydroxylase activity. 3 Publications1
Natural variantiVAR_072880399T → M in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1057520384Ensembl.1
Natural variantiVAR_072881408G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs745551241EnsemblClinVar.1
Natural variantiVAR_014031412Q → K in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; reduced affinity for L-tyrosine. 3 PublicationsCorresponds to variant dbSNP:rs121917762EnsemblClinVar.1
Natural variantiVAR_072882414G → R in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 3 PublicationsCorresponds to variant dbSNP:rs370962049Ensembl.1
Natural variantiVAR_071720428G → R in ARSEGS; phenotype with prominent levodopa-responsive myoconus-dystonia (M-D). 2 Publications1
Natural variantiVAR_072883441R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs367874223Ensembl.1
Natural variantiVAR_072884467S → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072885492P → L in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs767635052Ensembl.1
Natural variantiVAR_014032494T → M in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs45471299EnsemblClinVar.1
Natural variantiVAR_072886498D → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 4 PublicationsCorresponds to variant dbSNP:rs771351747Ensembl.1
Natural variantiVAR_072887510L → Q in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls.1 Publication

Keywords - Diseasei

Disease mutation, Dystonia, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNETi7054
GeneReviewsiTH
MalaCardsiTH
MIMi605407 phenotype
OpenTargetsiENSG00000180176
Orphaneti101150 Autosomal recessive dopa-responsive dystonia
PharmGKBiPA351

Chemistry databases

ChEMBLiCHEMBL1969
DrugBankiDB00120 L-Phenylalanine
DB00135 L-Tyrosine
DB03552 Meta-Tyrosine
DB00765 Metyrosine
DB00360 Sapropterin

Polymorphism and mutation databases

BioMutaiTH
DMDMi239938945

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002055611 – 528Tyrosine 3-monooxygenaseAdd BLAST528

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei19Phosphoserine; by CaMK21 Publication1
Modified residuei62PhosphoserineBy similarity1
Modified residuei71Phosphoserine; by CaMK2 and PKA1 Publication1
Modified residuei502PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP07101
PeptideAtlasiP07101
PRIDEiP07101
ProteomicsDBi51950
51951 [P07101-2]
51952 [P07101-3]
51953 [P07101-4]

PTM databases

iPTMnetiP07101
PhosphoSitePlusiP07101

Expressioni

Tissue specificityi

Mainly expressed in the brain and adrenal glands.

Gene expression databases

BgeeiENSG00000180176 Expressed in 85 organ(s), highest expression level in substantia nigra
CleanExiHS_TH
ExpressionAtlasiP07101 baseline and differential
GenevisibleiP07101 HS

Organism-specific databases

HPAiCAB002522
CAB072340
HPA013768
HPA061003

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112912, 13 interactors
ELMiP07101
IntActiP07101, 14 interactors
MINTiP07101
STRINGi9606.ENSP00000370571

Chemistry databases

BindingDBiP07101

Structurei

Secondary structure

1528
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP07101
SMRiP07101
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi85 – 90Poly-Ala6

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3820 Eukaryota
COG3186 LUCA
GeneTreeiENSGT00390000010268
HOGENOMiHOG000233373
HOVERGENiHBG006841
InParanoidiP07101
KOiK00501
OMAiISVKAPW
OrthoDBiEOG091G05MZ
PhylomeDBiP07101
TreeFamiTF313327

Family and domain databases

Gene3Di1.10.800.10, 1 hit
InterProiView protein in InterPro
IPR001273 ArAA_hydroxylase
IPR018301 ArAA_hydroxylase_Fe/CU_BS
IPR036951 ArAA_hydroxylase_sf
IPR036329 Aro-AA_hydroxylase_C_sf
IPR019774 Aromatic-AA_hydroxylase_C
IPR005962 Tyr_3_mOase
IPR019773 Tyrosine_3-monooxygenase-like
IPR021164 Tyrosine_hydroxylase_CS
PANTHERiPTHR11473 PTHR11473, 1 hit
PfamiView protein in Pfam
PF00351 Biopterin_H, 1 hit
PF12549 TOH_N, 3 hits
PIRSFiPIRSF000336 TH, 1 hit
PRINTSiPR00372 FYWHYDRXLASE
SUPFAMiSSF56534 SSF56534, 1 hit
TIGRFAMsiTIGR01269 Tyr_3_monoox, 1 hit
PROSITEiView protein in PROSITE
PS00367 BH4_AAA_HYDROXYL_1, 1 hit
PS51410 BH4_AAA_HYDROXYL_2, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket
Note: TH transcripts lacking exons 8 and 9 present concomitant splicing in exons 1b and 2.

This entry has 6 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: P07101-1) [UniParc]FASTAAdd to basket
Also known as: TH type 4

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM VRGQGAPGPS LTGSPWPGTA
60 70 80 90 100
APAASYTPTP RSPRFIGRRQ SLIEDARKER EAAVAAAAAA VPSEPGDPLE
110 120 130 140 150
AVAFEEKEGK AVLNLLFSPR ATKPSALSRA VKVFETFEAK IHHLETRPAQ
160 170 180 190 200
RPRAGGPHLE YFVRLEVRRG DLAALLSGVR QVSEDVRSPA GPKVPWFPRK
210 220 230 240 250
VSELDKCHHL VTKFDPDLDL DHPGFSDQVY RQRRKLIAEI AFQYRHGDPI
260 270 280 290 300
PRVEYTAEEI ATWKEVYTTL KGLYATHACG EHLEAFALLE RFSGYREDNI
310 320 330 340 350
PQLEDVSRFL KERTGFQLRP VAGLLSARDF LASLAFRVFQ CTQYIRHASS
360 370 380 390 400
PMHSPEPDCC HELLGHVPML ADRTFAQFSQ DIGLASLGAS DEEIEKLSTL
410 420 430 440 450
YWFTVEFGLC KQNGEVKAYG AGLLSSYGEL LHCLSEEPEI RAFDPEAAAV
460 470 480 490 500
QPYQDQTYQS VYFVSESFSD AKDKLRSYAS RIQRPFSVKF DPYTLAIDVL
510 520
DSPQAVRRSL EGVQDELDTL AHALSAIG
Length:528
Mass (Da):58,600
Last modified:June 16, 2009 - v5
Checksum:i31D2D49955ACF070
GO
Isoform 1 (identifier: P07101-2) [UniParc]FASTAAdd to basket
Also known as: TH type 3

The sequence of this isoform differs from the canonical sequence as follows:
     31-34: Missing.

Show »
Length:524
Mass (Da):58,160
Checksum:i708422BBD3304A6C
GO
Isoform 2 (identifier: P07101-3) [UniParc]FASTAAdd to basket
Also known as: HTH-1, hTH-Delta1b,2, TH type 1

The sequence of this isoform differs from the canonical sequence as follows:
     31-61: Missing.

Show »
Length:497
Mass (Da):55,612
Checksum:i6CB8EDC9C4874288
GO
Isoform 4 (identifier: P07101-4) [UniParc]FASTAAdd to basket
Also known as: hTH-Delta2, TH type 2

The sequence of this isoform differs from the canonical sequence as follows:
     35-61: Missing.

Show »
Length:501
Mass (Da):56,052
Checksum:iB614295B9CB2921F
GO
Isoform 5 (identifier: P07101-5) [UniParc]FASTAAdd to basket
Also known as: hTH-Delta2,8,9

The sequence of this isoform differs from the canonical sequence as follows:
     35-61: Missing.
     264-357: Missing.

Note: Lacks catalytic activity.
Show »
Length:407
Mass (Da):45,338
Checksum:i71FB6BA8A6061F44
GO
Isoform 6 (identifier: P07101-6) [UniParc]FASTAAdd to basket
Also known as: hTH-Delta1b,2,8,9

The sequence of this isoform differs from the canonical sequence as follows:
     31-61: Missing.
     264-357: Missing.

Note: Lacks catalytic activity.
Show »
Length:403
Mass (Da):44,898
Checksum:iDAD3F18191575F99
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y677H0Y677_HUMAN
Tyrosine 3-monooxygenase
TH
116Annotation score:
H0Y670H0Y670_HUMAN
Tyrosine 3-monooxygenase
TH
45Annotation score:
E7EQI0E7EQI0_HUMAN
Tyrosine 3-monooxygenase
TH
48Annotation score:
F8W8M5F8W8M5_HUMAN
Tyrosine 3-monooxygenase
TH
44Annotation score:

Sequence cautioni

The sequence AAA61173 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti373R → H in AAI43615 (PubMed:15489334).Curated1
Sequence conflicti401Y → S in AAA61179 (PubMed:2887169).Curated1
Sequence conflicti401Y → S in CAA28908 (PubMed:2882428).Curated1
Sequence conflicti401Y → S in CAA68472 (PubMed:2888085).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07286219S → C Found in a patient with ARSEGS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766704202Ensembl.1
Natural variantiVAR_014025112V → M Common polymorphism. 5 PublicationsCorresponds to variant dbSNP:rs6356EnsemblClinVar.1
Natural variantiVAR_072863207C → Y in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072864227D → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014026233R → H in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 4 PublicationsCorresponds to variant dbSNP:rs80338892EnsemblClinVar.1
Natural variantiVAR_014027236L → P in ARSEGS; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation. 3 PublicationsCorresponds to variant dbSNP:rs121917763EnsemblClinVar.1
Natural variantiVAR_072865241A → T in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072866246H → Y in ARSEGS; loss of about 40% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072867247G → S in ARSEGS; loss of about 50% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 PublicationsCorresponds to variant dbSNP:rs762304556Ensembl.1
Natural variantiVAR_071715251P → L in ARSEGS. 1 Publication1
Natural variantiVAR_072868259E → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014028276T → P in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934581EnsemblClinVar.1
Natural variantiVAR_071716279C → F in ARSEGS. 1 Publication1
Natural variantiVAR_072869294G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs755536257EnsemblClinVar.1
Natural variantiVAR_071717296R → Q in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs199961079Ensembl.1
Natural variantiVAR_072870301P → A in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072871309F → S in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014029314T → M in ARSEGS; parkinsonian symptoms in infancy; loss of about 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917764EnsemblClinVar.1
Natural variantiVAR_071718315G → S in ARSEGS. 2 PublicationsCorresponds to variant dbSNP:rs1288483479Ensembl.1
Natural variantiVAR_072872319R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072873328R → W in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_014030337R → H in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934580EnsemblClinVar.1
Natural variantiVAR_072874359C → F in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917765EnsemblClinVar.1
Natural variantiVAR_072875375F → L in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 Publications1
Natural variantiVAR_072876376A → V in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_071719382I → T in ARSEGS. 1 Publication1
Natural variantiVAR_072877385A → V in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs763039181Ensembl.1
Natural variantiVAR_072878387L → M in ARSEGS; no effect on tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072879394I → T in ARSEGS; complete loss of tyrosine hydroxylase activity. 3 Publications1
Natural variantiVAR_072880399T → M in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1057520384Ensembl.1
Natural variantiVAR_072881408G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs745551241EnsemblClinVar.1
Natural variantiVAR_014031412Q → K in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; reduced affinity for L-tyrosine. 3 PublicationsCorresponds to variant dbSNP:rs121917762EnsemblClinVar.1
Natural variantiVAR_072882414G → R in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 3 PublicationsCorresponds to variant dbSNP:rs370962049Ensembl.1
Natural variantiVAR_071720428G → R in ARSEGS; phenotype with prominent levodopa-responsive myoconus-dystonia (M-D). 2 Publications1
Natural variantiVAR_072883441R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs367874223Ensembl.1
Natural variantiVAR_072884467S → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications1
Natural variantiVAR_072885492P → L in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs767635052Ensembl.1
Natural variantiVAR_014032494T → M in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs45471299EnsemblClinVar.1
Natural variantiVAR_072886498D → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 4 PublicationsCorresponds to variant dbSNP:rs771351747Ensembl.1
Natural variantiVAR_014033499V → M1 PublicationCorresponds to variant dbSNP:rs1800033EnsemblClinVar.1
Natural variantiVAR_072887510L → Q in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00054431 – 61Missing in isoform 2 and isoform 6. 3 PublicationsAdd BLAST31
Alternative sequenceiVSP_00054331 – 34Missing in isoform 1. 1 Publication4
Alternative sequenceiVSP_00054135 – 61Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_054338264 – 357Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST94

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M17589 mRNA Translation: AAA61179.1
X05290 mRNA Translation: CAA28908.1
Y00414 mRNA Translation: CAA68472.1
DQ677336 mRNA Translation: ABG73364.1
DQ677337 mRNA Translation: ABG73365.1
AC132217 Genomic DNA No translation available.
M24791, M24787, M24789 Genomic DNA Translation: AAA61173.1 Sequence problems.
CH471158 Genomic DNA Translation: EAX02493.1
BC104967 mRNA Translation: AAI04968.1
BC143611 mRNA Translation: AAI43612.1
BC143614 mRNA Translation: AAI43615.1
M24791, M24787 Genomic DNA Translation: AAA61170.1
M20911 mRNA Translation: AAA61167.1
CCDSiCCDS31338.1 [P07101-2]
CCDS7730.1 [P07101-3]
CCDS7731.1 [P07101-1]
PIRiA30002 WHHUY4
RefSeqiNP_000351.2, NM_000360.3 [P07101-3]
NP_954986.2, NM_199292.2 [P07101-1]
NP_954987.2, NM_199293.2 [P07101-2]
XP_011518637.1, XM_011520335.2 [P07101-4]
UniGeneiHs.435609

Genome annotation databases

EnsembliENST00000333684; ENSP00000328814; ENSG00000180176 [P07101-6]
ENST00000352909; ENSP00000325951; ENSG00000180176 [P07101-3]
ENST00000381175; ENSP00000370567; ENSG00000180176 [P07101-2]
ENST00000381178; ENSP00000370571; ENSG00000180176 [P07101-1]
GeneIDi7054
KEGGihsa:7054
UCSCiuc001lvp.3 human [P07101-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Tyrosine hydroxylase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M17589 mRNA Translation: AAA61179.1
X05290 mRNA Translation: CAA28908.1
Y00414 mRNA Translation: CAA68472.1
DQ677336 mRNA Translation: ABG73364.1
DQ677337 mRNA Translation: ABG73365.1
AC132217 Genomic DNA No translation available.
M24791, M24787, M24789 Genomic DNA Translation: AAA61173.1 Sequence problems.
CH471158 Genomic DNA Translation: EAX02493.1
BC104967 mRNA Translation: AAI04968.1
BC143611 mRNA Translation: AAI43612.1
BC143614 mRNA Translation: AAI43615.1
M24791, M24787 Genomic DNA Translation: AAA61170.1
M20911 mRNA Translation: AAA61167.1
CCDSiCCDS31338.1 [P07101-2]
CCDS7730.1 [P07101-3]
CCDS7731.1 [P07101-1]
PIRiA30002 WHHUY4
RefSeqiNP_000351.2, NM_000360.3 [P07101-3]
NP_954986.2, NM_199292.2 [P07101-1]
NP_954987.2, NM_199293.2 [P07101-2]
XP_011518637.1, XM_011520335.2 [P07101-4]
UniGeneiHs.435609

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XSNX-ray2.68A/B/C/D193-528[»]
4J6SX-ray3.08E/F/G/H1-74[»]
ProteinModelPortaliP07101
SMRiP07101
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112912, 13 interactors
ELMiP07101
IntActiP07101, 14 interactors
MINTiP07101
STRINGi9606.ENSP00000370571

Chemistry databases

BindingDBiP07101
ChEMBLiCHEMBL1969
DrugBankiDB00120 L-Phenylalanine
DB00135 L-Tyrosine
DB03552 Meta-Tyrosine
DB00765 Metyrosine
DB00360 Sapropterin

PTM databases

iPTMnetiP07101
PhosphoSitePlusiP07101

Polymorphism and mutation databases

BioMutaiTH
DMDMi239938945

Proteomic databases

PaxDbiP07101
PeptideAtlasiP07101
PRIDEiP07101
ProteomicsDBi51950
51951 [P07101-2]
51952 [P07101-3]
51953 [P07101-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333684; ENSP00000328814; ENSG00000180176 [P07101-6]
ENST00000352909; ENSP00000325951; ENSG00000180176 [P07101-3]
ENST00000381175; ENSP00000370567; ENSG00000180176 [P07101-2]
ENST00000381178; ENSP00000370571; ENSG00000180176 [P07101-1]
GeneIDi7054
KEGGihsa:7054
UCSCiuc001lvp.3 human [P07101-1]

Organism-specific databases

CTDi7054
DisGeNETi7054
EuPathDBiHostDB:ENSG00000180176.14
GeneCardsiTH
GeneReviewsiTH
H-InvDBiHIX0035928
HGNCiHGNC:11782 TH
HPAiCAB002522
CAB072340
HPA013768
HPA061003
MalaCardsiTH
MIMi191290 gene
605407 phenotype
neXtProtiNX_P07101
OpenTargetsiENSG00000180176
Orphaneti101150 Autosomal recessive dopa-responsive dystonia
PharmGKBiPA351
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3820 Eukaryota
COG3186 LUCA
GeneTreeiENSGT00390000010268
HOGENOMiHOG000233373
HOVERGENiHBG006841
InParanoidiP07101
KOiK00501
OMAiISVKAPW
OrthoDBiEOG091G05MZ
PhylomeDBiP07101
TreeFamiTF313327

Enzyme and pathway databases

UniPathwayi
UPA00747;UER00733

BRENDAi1.14.16.2 2681
ReactomeiR-HSA-209905 Catecholamine biosynthesis
SIGNORiP07101

Miscellaneous databases

GeneWikiiTyrosine_hydroxylase
GenomeRNAii7054
PROiPR:P07101
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180176 Expressed in 85 organ(s), highest expression level in substantia nigra
CleanExiHS_TH
ExpressionAtlasiP07101 baseline and differential
GenevisibleiP07101 HS

Family and domain databases

Gene3Di1.10.800.10, 1 hit
InterProiView protein in InterPro
IPR001273 ArAA_hydroxylase
IPR018301 ArAA_hydroxylase_Fe/CU_BS
IPR036951 ArAA_hydroxylase_sf
IPR036329 Aro-AA_hydroxylase_C_sf
IPR019774 Aromatic-AA_hydroxylase_C
IPR005962 Tyr_3_mOase
IPR019773 Tyrosine_3-monooxygenase-like
IPR021164 Tyrosine_hydroxylase_CS
PANTHERiPTHR11473 PTHR11473, 1 hit
PfamiView protein in Pfam
PF00351 Biopterin_H, 1 hit
PF12549 TOH_N, 3 hits
PIRSFiPIRSF000336 TH, 1 hit
PRINTSiPR00372 FYWHYDRXLASE
SUPFAMiSSF56534 SSF56534, 1 hit
TIGRFAMsiTIGR01269 Tyr_3_monoox, 1 hit
PROSITEiView protein in PROSITE
PS00367 BH4_AAA_HYDROXYL_1, 1 hit
PS51410 BH4_AAA_HYDROXYL_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTY3H_HUMAN
AccessioniPrimary (citable) accession number: P07101
Secondary accession number(s): B7ZL70
, B7ZL73, Q0PWM2, Q0PWM3, Q15585, Q15588, Q15589, Q2M3B4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: June 16, 2009
Last modified: November 7, 2018
This is version 208 of the entry and version 5 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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